Genetics and Congenital Heart Disease

Richard W. Kim, MD


Genetic testing has become routine for many congenital heart disease (CHD) patients despite a general uncertainty about when testing is likely to be informative, what diagnostic test would be most appropriate for any given patient, and what a specific genetic diagnosis is likely to mean for both a patient and their family. To compound this issue, the genetic literature is rife with highly technical methodological details and frequently contains subtleties that can tremendously alter the interpretation of the material. This chapter is structured around a series of questions or simple statements, which may be helpful in organizing the diverse aspects of CHD genetics into manageable sections. The assumption is that most readers have little in terms of scientific background related to genetics. As the information about specific candidate genes is both constantly updated and is instantaneously available online, we will refrain from laundry lists of gene candidates relevant to CHD except to specifically emphasize a particular point or aspect of disease. Through these questions, we will attempt to bring the reader up to date on the latest scientific research, to provide some intuition into why these studies are important, and most importantly to provide the background necessary to interpret new genetic research and place those findings in the appropriate scientific context.

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Last updated: June 28, 2021